Symptoms

Clinical Manifestations Survey

In February 2020, researchers from the Albert Einstein College of Medicine conducted the first formal survey of the clinical manifestations associated with mutations in the gene KDM5C. The survey results can be downloaded from here. You can watch presentations about the results here. An academic paper based on the survey is available here.

DECIPHER Database

The Wellcome Sanger Institute publishes a list of phenotypes present in multiple matching KDM5C patients who participated in the Deciphering Developmental Disabilities study.

Anecdotal reports

Members of the KDM5C Support Group Facebook Group report a range of symptoms. Remember symptoms are on a spectrum in terms of occurrence and severity:

Reported by almost everyone

• Learning disability / global developmental delay
• Speech delay / oral dyspraxia
• Short stature
• Challenging behaviour
• Strabismus / long sighted requiring spectacles
• Anxiety

Reported by many

• Poor sleep pattern
• Snoring, enlarged adenoids, tendency to breath through the mouth
• Poor fine and gross motor skills / clumsy / accident-prone
• Chronic constipation - can be fatal if unmanaged, see this information leaflet
• Abnormal electrical activity in the brain / seizures
• Hyporeflexia
• ADHD
• Exhibiting autistic traits / diagnosis of autism / autistic spectrum disorder
• Diagnosis of Pathological Demand Avoidance (PDA), see www.pdasociety.org.uk and www.autism.org.uk
• Diagnosis of Oppositional Defiant Disorder (OOD), see the difference between PDA and ODD
• Diagnosis of Sensory Processing Disorder
• Self-injurious behaviour / picking at scabs

Reported by some

• Memory loss / regression
• Poor thermoregulation
• Vitamin D deficiency
• Tongue tie
• Craniosynostosis

Kinderneurologie.eu

The Dutch website Kinderneurologie.eu has a section on KDM5C which is based on a review of scientific literature. An English translation can be downloaded from here.